AutismKB 2.0

Evidence Details for MDFIC


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Basic Information Top
Gene Symbol:MDFIC ( HIC )
Gene Full Name: MyoD family inhibitor domain containing
Band: 7q31.1-q31.2
Quick LinksEntrez ID:29969; OMIM: NA; Uniprot ID:MDFIC_HUMAN; ENSEMBL ID: ENSG00000135272; HGNC ID: 28870
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MDFIC|29969|nucleotide
ATGTCCGGCGCGGGCGAAGCCCTCGCTCCCGGGCCCGTGGGGCCGCAGCGCGTGGCCGAGGCGGGCGGCGGCCAGCTGGGCTCCACAGCCCAGGGAAAATGTGAT
AAAGACAATACTGAGAAAGATATAACTCAAGCTACCAATAGCCACTTCACACATGGAGAGATGCAAGACCAGTCCATTTGGGGAAATCCTTCGGATGGTGAACTC
ATTAGAACCCAACCTCAGCGCTTGCCTCAGCTTCAGACTTCAGCCCAGGTGCCAAGTGGTGAGGAAATAGGCAAGATAAAGAACGGCCACACAGGTCTGAGCAAT
GGAAATGGAATTCACCACGGGGCCAAACACGGATCCGCAGATAATCGCAAACTTTCAGCACCTGTTTCTCAAAAAATGCATAGAAAAATTCAGTCCAGCTTGTCT
GTAAACAGCGATATCAGTAAGAAGAGCAAAGTAAATGCTGTCTTTTCCCAAAAGACAGGCTCTTCACCTGAAGATTGTTGTGTCCACTGTATCCTGGCTTGCTTG
TTCTGCGAATTCCTGACCCTTTGCAACATTGTCCTGGGACAAGCGTCATGTGGCATCTGCACCTCAGAAGCCTGCTGCTGTTGCTGTGGTGACGAGATGGGGGAT
GATTGTAACTGCCCTTGTGATATGGACTGTGGCATCATGGATGCCTGTTGTGAATCATCAGACTGCTTGGAAATCTGTATGGAATGCTGTGGAATTTGTTTTCCT
TCATAA



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>MDFIC|29969|protein
MSGAGEALAPGPVGPQRVAEAGGGQLGSTAQGKCDKDNTEKDITQATNSHFTHGEMQDQSIWGNPSDGELIRTQPQRLPQLQTSAQVPSGEEIGKIKNGHTGLSN
GNGIHHGAKHGSADNRKLSAPVSQKMHRKIQSSLSVNSDISKKSKVNAVFSQKTGSSPEDCCVHCILACLFCEFLTLCNIVLGQASCGICTSEACCCCCGDEMGD
DCNCPCDMDCGIMDACCESSDCLEICMECCGICFPS


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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top